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The prevalence of each single feature in the Ghent criteria in patients with Marfan syndrome (MFS) is not known. To elucidate this, a cross-sectional study of 105 adults with presumed MFS was carried out. All patients were examined by the same group of investigators with standardized and complete assessment of all features in the Ghent criteria.(More)
In monogenic disorders, correlation between genotype and phenotype is a premise for predicting prognosis in affected patients. Predictive genetic testing may enable prophylaxis and promote clinical follow-up. Although Marfan syndrome (MFS) is known as a monogenic disorder, according to the present diagnostic criteria a mutation in the gene FBN1 is not(More)
BACKGROUND AND PURPOSE Dural ectasia (DE) is one of the major criteria of Marfan syndrome (MFS). Our aim was to establish the prevalence of DE in an adult population fulfilling the Ghent criteria for MFS and to assess definitions of DE. MATERIALS AND METHODS One hundred five adults with suspected MFS were included. MR imaging at 1.5T was performed unless(More)
To establish the prevalence of protrusio acetabuli (PA) in adults fulfilling the Ghent criteria for Marfan syndrome (MFS), and in a normal adult population. 105 adults with probable MFS and 107 controls were included. CT of the hips was obtained. A qualitative assessment of PA was performed. A new method for estimating the degree of PA was introduced with(More)
PURPOSE The objectives of this study were to establish the prevalence of pulmonary artery dilatation in Marfan syndrome using modern radiological methods and to correlate the diameter of the vessel with aortic disease. METHODS Magnetic resonance or computed tomography imaging of the pulmonary artery and aorta was performed in 87 patients with proven(More)
BACKGROUND Pyridoxine-dependent seizures is an autosomal, recessively inherited inborn error of metabolism with recurrent long-lasting seizures with onset usually in infancy, but also up to three years of age. The seizures are resistant to conventional anticonvulsants. The condition ends fatally if diagnosis and administration of pyridoxine (vitamin B6 ) in(More)
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